Canonical Allele Identifier: CA1127208291

Gene: PTCSC2

Linked Data

• gnomAD v3: 9-97851935-G-GCCCCCCCCCCCCCCCCCCCCCC
• gnomAD v4: 9-97851935-G-GCCCCCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851938_97851939insCCCCCCCCCCCCCCCCCCCCCC , CM000671.2:g.97851938_97851939insCCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000009.11:g.100614220_100614221insCCCCCCCCCCCCCCCCCCCCCC , CM000671.1:g.100614220_100614221insCCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000009.10:g.99654041_99654042insCCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_011979.1:g.3684_3685insCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+940_218+941insGGGGGGGGGGGGGGGGGGGGGG
XR_930159.1:n.218+940_218+941insGGGGGGGGGGGGGGGGGGGGGG
XR_930160.1:n.218+940_218+941insGGGGGGGGGGGGGGGGGGGGGG
XR_930161.1:n.218+940_218+941insGGGGGGGGGGGGGGGGGGGGGG
NR_147055.1:n.165+980_165+981insGGGGGGGGGGGGGGGGGGGGGG